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EB Research - Pediatric Epidemiology
Birth Defects Research Group
The Birth Defects Research Group is a multi-center, multidisciplinary group led by NICHD to investigate the causes of birth defects. The collaborating institutions are NICHD, The National Human Genome Research Institute, The Health Research Board of Ireland and the Department of Biochemistry, Trinity College, Dublin. This group has made important discoveries related to neural tube defects including finding that mothers carrying affected fetuses have higher homocysteine (a folate-related compound) levels. The group has been the first to identify several genetic risk factors related to folate and vitamin B12. It has also shown that low vitamin B12 status is an independent risk factor in a population where vitamin supplement use is rare.
Current research includes looking at genetic factors related to folate and vitamin B12 status to identify additional risk genes for neural tube defects. The group has also been active in looking for genetic factors related to risk for cleft lip and cleft palate. It recently collaborated in a multi-national genome wide association study that identified two new genetic variants that were strong risk factors for cleft lip with or without cleft palate.
Because low folate status is an important risk factor for neural tube defects, the group has conducted a quantitative traits genome wide association study to look for genetic variants associated with low folate status in 2500 Trinity College students (The Trinity Student Study). The data are currently being analyzed to identify variants that will then be tested for association with neural tube defects.
It should be noted that samples have been collected and stored so that other investigators can assay them and look for genetic factors that affect the concentration of the chemicals they wish to evaluate. This has already been done by collaborators looking for variants in von Willebrand factor. Additional analyses are ongoing. The group is open to other requests to collaborate using these resources.
James Mills, M.D., M.S.